RGD:156243198 Rat Genome Database

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Variant: RGD:156243198 -  Homo sapiens

RGD ID: 156243198
ClinVar ID: CV2210878
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 36,978,793
GRCh38 6 37,011,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173558.3:c.345G>T
NP_775829.2:p.Gln115His
NM_173558.4:c.345G>T
NG_051804.1:g.10371G>T
More... 		11/23/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FGD2
Accession:NM_173558
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECRPPESPGPREKTNVGEAVGSEPRTVSRRYLNSLKNKL
SSEAWRKSCQPVTLSGSGTQEPEKKIVQELLETEHAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVIFSNISSIYQF
HSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSPLFQEVLTRIQSSEASGSLTLQH
HMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKALDMIFSAAQHSNAAITEMERLQDLWEVYQRLGLEDDIVDPSNTL
LREGPVLKISFRRNDPMERYLFLFNNMLLYCVPRVIQVGAQFQVRTRIDVAGMKVRELMDAEFPHSFLVSGKQRTLELQA
RSQEEMISWMQAFQAAIDQIEKRNETFKAAAQGPEGDIQEQELQSEELGLRAPQWVRDKMVTMCMRCQEPFNALTRRRHH
CRACGYVVCARCSDYRAELKYDDNRPNRVCLHCYAFLTGNVLPEAKEDKRRGILEKGSSATPDQSLMCSFLQLIGDKWGK
SGPRGWCVIPRDDPLVLYVYAAPQDMRAHTSIPLLGYQVTVGPQGDPRVFQLQQSGQLYTFKAETEELKGRWVKAMERAA
SGWSPSWPNDGDLSD*

Gene Symbol:FGD2
Accession:XM_011514372
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECRPPESPGPREKTNVGEAVGSEPRTVSRRYLNSLKNKL
SSEAWRKSCQPVTLSGSGTQEPEKKIVQELLETEHAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVIFSNISSIYQF
HSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSPLFQEVLTRIQSSEASGSLTLQH
HMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKALDMIFSAAQHSNAAITEMERLQDLWEVYQRLGLEDDIVDPSNTL
LREGPVLKISFRRNDPMERYLFLGDPGGRPVPGEDPHRCGRDEGFNPEGSRLWWNFWHRGGHSQRSFLTTPLCWLLSPGV
S*

Gene Symbol:FGD2
Accession:XM_011514373
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECRPPESPGPREKTNVGEAVGSEPRTVSRRYLNSLKNKL
SSEAWRKSCQPVTLSGSGTQEPEKKIVQELLETEHAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVIFSNISSIYQF
HSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSPLFQEVLTRIQSSEASGSLTLQH
HMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKALDMIFSAAQHSNAAITEMERLQDLWEVYQRLGLEDDIVDPSNTL
LREGPVLKISFRRNDPMERYLFLFNNMLLYCVPRVIQVGAQFQVRTRIDVAGMKASIQRVQDYGGISGIVEDTAREAS*

Gene Symbol:FGD2
Accession:XM_047418332
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECRPPESPGPREKTNVGEAVGSEPRTVSRRYLNSLKNKL
SSEAWRKSCQPVTLSGSGTQEPEKKIVQELLETEHAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVIFSNISSIYQF
HSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSPLFQEVLTRIQSSEASGSLTLQH
HMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKALDMIFSAAQHSNAAITEMERLQDLWEVYQRLGLEDDIVDPSNTL
LREGPVLKISFRRNDPMERYLFLFNNMLLYCVPRVIQVGAQFQVRTRIDVAGMKVRELMDAEFPHSFLVSGKQRTLELQA
RSQEEMISWMQAFQAAIDQIEKRNETFKAAAQGPEGDIQEQELQSEELGLRAPQWVRDKMVTMCMRCQEPFNALTRRRHH
CRACGYVVCARCSDYRAELKYDDNRPNRVCLHCYAFLTGNVLPEAKEDKRRGILETPGLSPQPRQCGACHQMEAPFGCRL
SSTFFCTSSMSPSDSTAPLDSSCSRPHVLPRQSQGAKSWCHRFHFTDGNTDAPERVLSHA*

Gene Symbol:FGD2
Accession:XR_926106
Location:EXON;NON-CODING

Gene Symbol:FGD2
Accession:XM_047418333
Location:INTRON

Gene Symbol:FGD2
Accession:XM_047418334
Location:INTRON

Gene Symbol:FGD2
Accession:XM_047418335
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004085962 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FGD2 CLINVAR
OMIM 605091 CLINVAR